A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545948



Internal ID15986671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30874473..30902722hg38UCSC Ensembl
Innerchr1:31347320..31375569hg19UCSC Ensembl
Innerchr1:31119907..31148156hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3828250
hg1928250
hg1828250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173808
SamplesHGDP01077
Known GenesSDC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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